Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.R460H
Back to variants list

SPAST

NM_014946.4:p.R460H

Associated Papers

Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.

Choi Y et al.

Yonsei Medical Journal, 2026

41431411 (PubMed )
Supplement: ymj-67-34-s001.pdf

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4

Genetic etiology of progressive pediatric neurological disorders.

Aaltio J et al.

Pediatric Research, 2024

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.

Wang XC et al.

Molecular Medicine Reports, 2023

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Shoukier M et al.

European Journal of Human Genetics : Ejhg, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."